PLAGL1 PLAG1 like zinc finger 1
Gene ID: 5325, updated on 22-Apr-2024Gene type: protein coding
Also known as: ZAC; LOT1; ZAC1
- See all available tests in GTR for this gene
- Go to complete Gene record for PLAGL1
- Go to Variation Viewer for PLAGL1 variants
Summary
This gene encodes a C2H2 zinc finger protein that functions as a suppressor of cell growth. This gene is often deleted or methylated and silenced in cancer cells. In addition, overexpression of this gene during fetal development is thought to be the causal factor for transient neonatal diabetes mellitus (TNDM). Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding two different protein isoforms. The P1 downstream promoter of this gene is imprinted, with preferential expression from the paternal allele in many tissues. [provided by RefSeq, Nov 2015]
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-08-26) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-08-26) ClinGen Genome Curation Page |
Genomic context
- Location:
- 6q24.2
- Sequence:
- Chromosome: 6; NC_000006.12 (143940300..144064599, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLAGL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PLAGL1 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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